Down Syndrome
'History of Down Syndrome' In 1866, a physician named John Langdon Down published an essay in England in which he described a group of children with common features who were different from other children with mental retardation. Down was the superintendent of an asylum for children with mental retardation in England when he made the first distinction between children who were mentally retarded. He referred to these children as "Mongoloids" because these children looked like they were from Mongolia. Though in the 1960s this name came under fire from Asian genetic researchers and in the 1970s the name was changed to Down Syndrome. ' 'What is Down Syndrome? Down syndrome is a set of physical and mental traits caused by a gene problem that happens before birth. Down syndrome is caused by a problem with a baby’s chromosomes that happens long before the baby is born. Normally, a baby has 46 chromosomes. But most people with Down syndrome have 47 chromosomes. In rare cases, other chromosome problems cause Down syndrome. Experts don't know the exact cause of the chromosome problem. ' 'Symptoms/Diagnosis Most children with Down syndrome have: ' '''Distinct facial features, such as a flat face, small ears, slanting eyes, and a small mouth. ' 'A short neck and short arms and legs. ' 'Weak muscles and loose joints. Muscle tone usually improves by late childhood. ' 'Below-average intelligence. ' '''Many children with Down syndrome are also born with heart, intestine, ear, or breathing problems. These health conditions often lead to other problems, such as airway (respiratory) infections or hearing loss. Your doctor may suggest that you have tests during pregnancy to find out if your baby has Down syndrome. A screening test can help show if the baby (fetus) is at risk for Down syndrome. But these tests sometimes give false-positive or false-negative results. Screening tests include: A blood test and a fetal ultrasound late in the first trimester. The ultrasound looks for thickness in the back of the baby’s neck (nuchal fold), which can be a sign of Down syndrome. This kind of ultrasound is not available in many areas. ' '''A blood test called a maternal serum triple screen or quadruple screen in the second trimester. By measuring substances in your blood, these tests can estimate the chance that your baby has Down syndrome or other health problems. ' ''''Your doctor may suggest a chromosome (karyotype) test if you have an abnormal screening test result or if you are worried about Down syndrome. A karyotype test has more risks than a screening test. But it can say for sure if your baby has Down syndrome Karyotype tests include: Chorionic villus sampling in the first trimester. For this test, the doctor takes a sample of cells from the placenta, either by putting a thin tube through your vagina or by putting a thin needle into your belly. ' ''Amniocentesis in the second trimester. For this test, the doctor puts a thin needle into your belly and takes a sample of the liquid (amniotic fluid) that surrounds the baby. ' ' 'Prognosis After birth, a baby with Down syndrome will be tested for common health problems. For example, many babies with Down syndrome have eye, ear, or thyroid problems. The sooner these problems are found, the better they can be managed. Regular doctor visits can help your child stay in good health. Your doctor will make a treatment plan that meets your growing child’s needs. For example, most children with Down syndrome benefit from speech therapy and physical therapy. As your child matures, occupational therapy can help your child learn the skills needed to hold a job and live independently. Counseling may help with social skills and emotional issues. 'Frequency ' Approximately 1 in 800 or 0.12% or 340,000 people in USA are diagnosed with Down Syndrome. ' '''340,000 per year are diagnosed with Down Syndrome. ' '28,333 per month are diagnosed with Down Syndrome. ' '6,538 per week are diagnosed with Down Syndrome. ' '931 per day are diagnosed with Down Syndrome. ' '38 per hour are diagnosed with Down Syndrome. ' 'How it's Inherited ' '''Most cases of Down syndrome are not inherited. When the condition is caused by trisomy 21, the chromosomal abnormality occurs as a random event during the formation of reproductive cells. The abnormality usually occurs in egg cells, but it occasionally occurs in sperm cells. An error in cell division called nondisjunction results in a reproductive cell with an abnormal number of chromosomes. For example, an egg or sperm cell may gain an extra copy of chromosome 21. If one of these atypical reproductive cells contributes to the genetic makeup of a child, the child will have an extra chromosome 21 in each of the body's cells. 'Treatment' Because there is no cure, the goals of Down syndrome treatment are to control symptoms and manage any resulting medical conditions. This includes regular checkups and screenings, medications, and surgery. Counseling and support groups are also aspects of treatment for those who need help in coping with the emotional and practical aspects of Down syndrome.